Canonical Allele Identifier: CA362869076

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627687A>G (hg19) ; chr6:g.15627456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627456A>G , CM000668.2:g.15627456A>G	GRCh38
NC_000006.11:g.15627687A>G , CM000668.1:g.15627687A>G	GRCh37
NC_000006.10:g.15735666A>G	NCBI36
NG_009309.1:g.40585T>C , LRG_588:g.40585T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.242T>C MANE Select	ENSP00000341680.6:p.Val81Ala
ENST00000338950.9:c.242T>C	ENSP00000344718.5:p.Val81Ala
ENST00000344537.9:c.242T>C	ENSP00000341680.5:p.Val81Ala
ENST00000355917.7:c.191T>C	ENSP00000348183.4:p.Val64Ala
ENST00000506844.1:c.*240T>C	ENSP00000424202.1:n.*240T>C
ENST00000510395.5:c.*152T>C	ENSP00000424685.1:n.*152T>C
ENST00000511762.2:c.137T>C	ENSP00000427473.2:p.Val46Ala
ENST00000513680.5:c.*240T>C	ENSP00000424357.1:n.*240T>C
ENST00000515875.5:c.191T>C	ENSP00000425495.1:p.Val64Ala
ENST00000622898.4:c.137T>C	ENSP00000481997.1:p.Val46Ala
NM_001271667.1:c.-2T>C	NP_001258596.1:n.-2T>C
NM_001271668.1:c.191T>C	NP_001258597.1:p.Val64Ala
NM_001271669.1:c.137T>C	NP_001258598.1:p.Val46Ala
NM_032122.4:c.242T>C , LRG_588t1:c.242T>C	NP_115498.2:p.Val81Ala
NM_183040.2:c.242T>C , LRG_588t2:c.242T>C	NP_898861.1:p.Val81Ala
NR_036448.1:n.570T>C
XM_005249447.3:c.203T>C	XP_005249504.1:p.Val68Ala
XM_011514936.1:c.152T>C	XP_011513238.1:p.Val51Ala
XM_005249447.4:c.203T>C	XP_005249504.1:p.Val68Ala
XM_011514936.3:c.152T>C	XP_011513238.1:p.Val51Ala
NM_032122.5:c.242T>C MANE Select	NP_115498.2:p.Val81Ala
NR_036448.2:n.540T>C
NM_001271667.2:c.-2T>C	NP_001258596.1:n.-2T>C
NM_001271668.2:c.191T>C	NP_001258597.1:p.Val64Ala
NM_001271669.2:c.137T>C	NP_001258598.1:p.Val46Ala
NR_036448.3:n.540T>C